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J. Polke · SciRah

Researcher profile · Semantic Scholar

J. Polke

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J. Polke — researcher profile on SciRah

h-index: 38
Works: 153
Citations: 5,957

Most-cited papers

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
A. Cortese, Roberto Simone, R. Sullivan, J. Vandrovcova +26 more
2019Nature Genetics517 citations Open access
Semantic Scholar
Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers
Catherine Houlihan, N. Vora, T. Byrne, D. Lewer +318 more
2020The Lancet222 citations Open access
Semantic Scholar
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
A. Cortese, S. Tozza, Wai Y. Yau, Salvatore Rossi +38 more
2020Brain : a journal of neurology211 citations Open access
Semantic Scholar
G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo
Roberto Simone, R. Balendra, T. Moens, Elisavet Preza +29 more
2017EMBO Molecular Medicine200 citations Open access
Semantic Scholar
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
N. Mencacci, I. Isaias, M. Reich, C. Ganos +41 more
2014Brain : a journal of neurology198 citations Open access
Semantic Scholar
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
D. Hensman Moss, M. Poulter, J. Beck, J. Hehir +11 more
2014Neurology183 citations Open access
Semantic Scholar
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL
J. Rutten, H. Dauwerse, Gido Gravesteijn, M. V. van Belzen +4 more
2016Annals of Clinical and Translational Neurology182 citations Open access
Semantic Scholar
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
D. Smedley, Katherine R. Smith, A. Martin, E. Thomas +193 more
2021New England Journal of Medicine179 citations Open access
Semantic Scholar
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
K. Ibañez, J. Polke, R. T. Hagelstrom, E. Dolzhenko +74 more
2022Lancet Neurology154 citations Open access
Semantic Scholar
The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients
Zhengrui Xi, Ming Zhang, A. Bruni, R. Maletta +22 more
2015Acta Neuropathologica138 citations Open access
Semantic Scholar
Extended phenotypic spectrum of KIF5A mutations
Yo-Tsen Liu, M. Laurá, J. Hersheson, A. Horga +13 more
2014Neurology110 citations Open access
Semantic Scholar
Plasma phospho-tau181 in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study
A. O'Connor, T. Karikari, T. Poole, N. Ashton +17 more
2020Molecular Psychiatry102 citations Open access
Semantic Scholar
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17
Suran Nethisinghe, Wei N. Lim, H. Ging, Anna Zeitlberger +18 more
2018Frontiers in Cellular Neuroscience97 citations Open access
Semantic Scholar
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
A. Cortese, J. Wilcox, J. Polke, R. Poh +7 more
2019Neurology89 citations Open access
Semantic Scholar
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
E. Mavraki, R. Labrum, K. Sergeant, C. Alston +10 more
2022European Journal of Human Genetics71 citations Open access
Semantic Scholar
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis
N. Dominik, S. Magri, R. Curro', Elena Abati +114 more
2023Brain : a journal of neurology69 citations Open access
Semantic Scholar
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
M. Pipis, S. Feely, J. Polke, M. Skorupinska +56 more
2020Brain : a journal of neurology69 citations Open access
Semantic Scholar
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
P. Fratta, J. Polke, J. Newcombe, S. Mizielinska +26 more
2015Neurobiology of Aging64 citations Open access
Semantic Scholar
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease
C. Record, M. Pipis, M. Skorupinska, J. Blake +10 more
2024Brain : a journal of neurology54 citations Open access
Semantic Scholar
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT
P. Tomaselli, A. Rossor, A. Horga, Z. Jaunmuktane +10 more
2017Neurology53 citations Open access
Semantic Scholar
The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism
L. Schottlaender, J. Polke, H. Ling, Nicola D. MacDoanld +11 more
2015Neurobiology of Aging50 citations Open access
Semantic Scholar
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
M. Prudencio, H. Garcia-Moreno, Karen R. Jansen-West, R. Al-Shaikh +48 more
2020Science Translational Medicine47 citations Open access
Semantic Scholar
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
Zhong-Bo Chen, Emil K. Gustavsson, H. Macpherson, Claire Anderson +20 more
2024Movement Disorders46 citations Open access
Semantic Scholar
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
Riccardo Ronco, Cecilia Perini, R. Curro', N. Dominik +29 more
2022Neurology46 citations Open access
Semantic Scholar
A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease
P. Gami, C. Murray, L. Schottlaender, C. Bettencourt +9 more
2015Acta Neuropathologica40 citations Open access
Semantic Scholar
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease
A. Horga, M. Laurá, Z. Jaunmuktane, N. Jerath +15 more
2017Journal of Neurology Neurosurgery & Psychiatry37 citations Open access
Semantic Scholar
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
R. Curro', N. Dominik, S. Facchini, E. Vegezzi +154 more
2023medRxiv36 citations Open access
Semantic Scholar
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
A. Rossor, J. Morrow, J. Polke, Sinéad M. Murphy +5 more
2017Neuromuscular Disorders33 citations Open access
Semantic Scholar
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
C. Record, M. Skorupinska, M. Laurá, A. Rossor +69 more
2023Brain : a journal of neurology31 citations Open access
Semantic Scholar
Plasma GFAP in presymptomatic and symptomatic familial Alzheimer’s disease: a longitudinal cohort study
A. O'Connor, Emily Abel, A. Benedet, T. Poole +9 more
2022Journal of Neurology Neurosurgery & Psychiatry30 citations Open access
Semantic Scholar
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1
U. Kugathasan, M. Evans, J. Morrow, C. Sinclair +15 more
2019Journal of Neurology Neurosurgery & Psychiatry30 citations Open access
Semantic Scholar
Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia
V. Chelban, A. Tucci, David S. Lynch, J. Polke +5 more
2017Journal of Neurology Neurosurgery & Psychiatry29 citations Open access
Semantic Scholar
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
M. Zanovello, K. Ibañez, Anna-Leigh Brown, P. Sivakumar +20 more
2023Brain : a journal of neurology27 citations Open access
Semantic Scholar
Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease
Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte +20 more
2023npj Parkinson's Disease26 citations Open access
Semantic Scholar
Plasma amyloid-β ratios in autosomal dominant Alzheimer’s disease: the influence of genotype
A. O'Connor, Josef Pannee, T. Poole, C. Arber +17 more
2021Brain : a journal of neurology26 citations Open access
Semantic Scholar
Scalable and robust SARS-CoV-2 testing in an academic center
J. Aitken, Karen Ambrose, S. Barrell, R. Beale +282 more
2020Nature Biotechnology26 citations Open access
Semantic Scholar
Repeat expansion disorders
Zhong-Bo Chen, Huw R. Morris, J. Polke, N. Wood +4 more
2024Practical Neurology24 citations Open access
Semantic Scholar
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation
P. Saveri, M. De Luca, Veronica Nisi, C. Pisciotta +14 more
2020Cells22 citations Open access
Semantic Scholar
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
W. Macken, M. Falabella, C. Pizzamiglio, C. Woodward +9 more
2023Expert Review of Molecular Diagnostics19 citations Open access
Semantic Scholar
Interruptions of the FXN GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner
Suran Nethisinghe, Maheswaran Kesavan, H. Ging, R. Labrum +7 more
2021International Journal of Molecular Sciences19 citations Open access
Semantic Scholar
MFN2 deletion of exons 7 and 8: founder mutation in the UK population
Aisling S. Carr, J. Polke, Jacob Wilson, Ana L. Pelayo-Negro +9 more
2015Journal of the peripheral nervous system19 citations
Semantic Scholar
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
M. Pipis, A. Cortese, J. Polke, R. Poh +16 more
2021Journal of Neurology Neurosurgery & Psychiatry16 citations Open access
Semantic Scholar
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
A. Horga, C. Woodward, Alberto Mills, I. Pareés +16 more
2019Human Genetics16 citations Open access
Semantic Scholar
Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?
H. Ling, Seamus Kearney, H. L. K. Yip, L. Silveira-Moriyama +7 more
2015Journal of Neurology Neurosurgery & Psychiatry14 citations Open access
Semantic Scholar
Semi‐dominant mutations in MFN2‐related neuropathy and implications for genetic counselling
P. Tomaselli, A. Rossor, J. Polke, R. Poh +2 more
2016Journal of the peripheral nervous system13 citations
Semantic Scholar
Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy
A. Horga, E. Bugiardini, A. Manole, F. Bremner +15 more
2019Neurology: Genetics12 citations Open access
Semantic Scholar
Elevated 4R‐tau in astrocytes from asymptomatic carriers of the MAPT 10+16 intronic mutation
N. Setó-Salvia, Noemí Esteras, R. de Silva, E. de Pablo-Fernández +9 more
2021Journal of Cellular and Molecular Medicine11 citations Open access
Semantic Scholar
Whole genome sequencing for diagnosis of neurological repeat expansion disorders
K. Ibañez, J. Polke, Tanner Hagelstrom, E. Dolzhenko +76 more
202010 citations Open access
Semantic Scholar
Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
A. Cortese, Roberto Simone, R. Sullivan, J. Vandrovcova +26 more
2019Nature Genetics10 citations Open access
Semantic Scholar
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
M. Pipis, Seongsik Won, R. Poh, S. Efthymiou +10 more
2023Brain : a journal of neurology9 citations Open access
Semantic Scholar

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